ANKLE1 - ankyrin repeat and LEM domain containing 1 Gene

Also Known as LEM3; LEMD6; ANKRD41

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 126549

About ANKLE1

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:17,281,901-17,287,646 (from NCBI)

This gene has 11 transcripts (splice variants), 181 orthologues and 2 paralogues. Biased expression in bone marrow (RPKM 8.2), lymph node (RPKM 1.3) and 2 other tissues.

Summary

Enables Endonuclease activity. Involved in positive regulation of response to DNA damage stimulus and protein export from nucleus. Located in cytosol and nucleoplasm. Colocalizes with nucleus. [provided by Alliance of Genome Resources, Apr 2022]

ANKLE1 Products (4)

mRNA	Protein	Name
NM_001278443.2	NP_001265372.2	ankyrin repeat and LEM domain-containing protein 1 isoform 2
NM_001278444.2	NP_001265373.2	ankyrin repeat and LEM domain-containing protein 1 isoform 3
NM_001278445.2	NP_001265374.2	ankyrin repeat and LEM domain-containing protein 1 isoform 4
NM_152363.6	NP_689576.6	ankyrin repeat and LEM domain-containing protein 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables endonuclease activity	IDA IDA: Inferred from direct assay	22399800	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	22399800	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in DNA damage response	IDA IDA: Inferred from direct assay	22399800	GOA
involved in protein export from nucleus	IDA IDA: Inferred from direct assay	22399800	GOA
involved in protein export from nucleus	IMP IMP: Inferred from mutant phenotype	22399800	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	22399800	GOA
colocalizes with nucleus	IDA IDA: Inferred from direct assay	22399800	GOA
colocalizes with nucleus	IMP IMP: Inferred from mutant phenotype	27245214	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ANKLE1 Protein Structure

Ank_2

LEM

0
100
200
300
400
500
615 a.a.

Protein Preferred Names	Protein Names
ankyrin repeat and LEM domain-containing protein 1	LEM domain containing 6

Related Diseases

Diseases	Alias
Legionellosis	Legionella Infection Pontiac Fever Legionnaires' Disease Infection By Legionella Pneumophilia Legionella Pneumophila Infection
Legionnaire Disease	Legionnaires' Disease Legionnaires Disease Legionnaire Disease, Susceptibility To Legionella Legionella Pneumonia Infection By Legionella Pneumophilia Legionnaire'S Disease Legionellosis Legionaire Disease, Susceptibility To Legionnaires Pneumonia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00709	ANKLE1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ANKLE1	VGNC	VGNC:25903
Mus musculus	ANKLE1	MGD	MGI:1918775
Canis familiaris	ANKLE1	VGNC	VGNC:37875
Macaca mulatta	ANKLE1	VGNC	VGNC:69715
Rattus norvegicus	ANKLE1	RGD	RGD:1308184
Felis catus	ANKLE1	VGNC	VGNC:59791
Others	ANKLE1	NCBI